2009
DOI: 10.1373/clinchem.2008.115378
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MALDI-TOF MS Genotyping of Polymorphisms Related to 1-Carbon Metabolism Using Common and Mass-Modified Terminators

Abstract: BACKGROUND:Large cohort studies may provide sufficient power to disentangle the role of polymorphisms related to 1-carbon metabolism and chronic diseases, but they require fast, accurate, high-throughput genotyping techniques. MALDI-TOF mass spectrometry has been adapted to rapid fine mapping using various approaches for allele discrimination. We developed a genotyping method based on MALDI-TOF MS and compared assay performance for formats based on standard and mass-modified terminators.

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Cited by 13 publications
(10 citation statements)
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References 38 publications
(39 reference statements)
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“…Compliance was judged by capsule counts and interviews. Study‐related analyses of circulating B‐vitamin and homocysteine levels and genotyping of the MTHFR (NCBI Entrez Gene 4524) 677C‐‐‐>T polymorphism were performed at Bevital AS, Bergen, Norway, using published methods [25–29].…”
Section: Methodsmentioning
confidence: 99%
“…Compliance was judged by capsule counts and interviews. Study‐related analyses of circulating B‐vitamin and homocysteine levels and genotyping of the MTHFR (NCBI Entrez Gene 4524) 677C‐‐‐>T polymorphism were performed at Bevital AS, Bergen, Norway, using published methods [25–29].…”
Section: Methodsmentioning
confidence: 99%
“…concentrations of riboflavin, pyridoxal 5ʹ-phosphate, methionine, choline, betaine, dimethylglycine, sarcosine, and creatinine were measured with liquid chromatography-mass spectrometry methods. 21,22 total plasma homocysteine concentrations were measured using an isotope dilution gas chromatographymass spectrometry method. 23 Folate and vitamin B12 concentrations were determined with a microbiological method using Lactobacillus casei and Lactobacillus leichmannii, respectively, and adapted to a microtiter plate format and carried out by a robotic workstation.…”
Section: Blood Sampling and Analysesmentioning
confidence: 99%
“…24,25 in addition, three single nucleotide polymorphisms (BHMT 742g>a, MTR 2756a>g, and MTHFR 677c>t) were determined using MalDi-tOF mass spectrometry. 22 to prevent batch effects, samples were analyzed in matched case-control sets, with the position of the case randomized within each set. the investigators and laboratory staff were blinded to case and control status.…”
Section: Blood Sampling and Analysesmentioning
confidence: 99%
“…Plasma concentrations of tHcy, tCys, kynurenine and tryptophan were measured using an isotope dilution gas chromatography–mass spectrometry method (between‐day CV: 2–9%) . Folate and cobalamin concentrations were determined by a microbiological method using Lactobacillus casei and Lactobacillus leichmannii , respectively, adapted to a microtiter plate format and carried out by a robotic workstation (between‐day CV: 5%), MTHFR rs1801133 genotype was determined using MALDI‐TOF mass spectrometry (estimated average error rate of ≤0.1% in duplicated samples) . The investigators and laboratory staff were blinded to case and control status.…”
Section: Methodsmentioning
confidence: 99%